ESPE Abstracts

Objectives: No validated achondroplasia (ACH)-specific patient reported outcome (PRO) or clinician-reported outcome (ClinRO) measures are available. A detailed review of generic PRO and ClinRO measures was performed to select relevant tools for further evaluation in a qualitative study.Methods: Published literature describing medical challenges and impacts among children with ACH was reviewed to identify important concep...

Objectives: Individuals with achondroplasia (ACH) experience medical, emotional and functional detriments during their lifetime. A comprehensive research initiative was conducted to include combined concept elicitation (CE) and cognitive debriefing (CD) interviews and mapping of concepts to identify the most relevant available patient-reported outcome (PRO) measures for inclusion in studies of ACH.Methods: Combined CE/CD...

Background and Objectives: Achondroplasia (ACH) is characterized by severe short stature with a height deficit of approximately 6 SDS below that of average stature. Our objective was to evaluate the impact of height deficit on health-related quality of life (HRQoL) and functional independence in children with ACH.Methods: Height Z-score, HRQoL, and functional independence data were obtained from children with ACH who enr...

Achondroplasia (ACH) is the most common form of dwarfism, occurring in 1: 20,000 births. ACH is caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that interfere with endochondral ossification. Clinically significant morbidities are frequent in ACH; however, there are currently no approved therapies that target the underlying pathobiology. C-type natriuretic peptide (CNP) is an attractive target as it has the potential to inhi...

Objectives: Achondroplasia (ACH), caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3), leads to inhibition of endochondral bone growth. Vosoritide is a biological analogue of C-type natriuretic peptide (CNP), a potent stimulator of endochondral bone growth. A Phase 2, open-label, sequential cohort, dose-escalation study was conducted to evaluate the safety, tolerability, and efficacy of vosoritide for 24 months in children with ACH aged 5&#150...

Background: Bone age (BA) is commonly used in pediatrics to define skeletal maturity for medical and non-medical purposes. Normal range is represented by 2 standard deviations (SDs) above and below the mean. A BA greater than ±2 SDs from the chronological age (CA) is considered abnormal. BA in achondroplasia (ACH) has not been fully characterized; calculation is challenging given difficulties in comparing x-rays with standard radiographs if using the Greuli...

Background: ACH, the most common short-limbed skeletal dysplasia, is characterized by defective endochondral ossification resulting from gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone formation. Current treatment options are non-targeted, ineffective, or painful interventions aimed at preventing or treating complications. Infigratinib is an orally bioavailable and selective...

Background: ACH is the most common short-limbed skeletal dysplasia, affecting between 1 in 15,000 to 1 in 30,000 live births. Children and adults with ACH have disproportionate short stature, with a final height of approx. 131 cm for males and 124 cm for females. People with ACH are prone to significant co-morbidities, including obstructive sleep apnea, chronic otitis media with conductive hearing loss, spinal stenosis, and a propensity towards obesity. In som...

Introduction: Vosoritide increases growth in children with achondroplasia aged 5–18 years (Savarirayan et al, Genet Med, 2021). We recently reported results from a phase 2, randomized, double-blind, placebo-controlled study (111-206) in young children with achondroplasia aged 3 months–5 years Here we present results from an open-label extension study (111-208) spanning up to 4 years of treatment in the children aged 2-5 years at study star...

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...